Canonical Allele Identifier: CA491110919

Gene: HEXA

Linked Data

• dbSNP Id: rs1198629809
• gnomAD v2: 15-72637760-C-T
• MyVariant Identifiers: chr15:g.72637760C>T (hg19) ; chr15:g.72345419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345419C>T , CM000677.2:g.72345419C>T	GRCh38
NC_000015.9:g.72637760C>T , CM000677.1:g.72637760C>T	GRCh37
NC_000015.8:g.70424814C>T	NCBI36
NG_009017.1:g.35761G>A
NG_009017.2:g.35761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*213G>A	ENSP00000457521.2:n.*213G>A
ENST00000682061.1:c.*1899G>A	ENSP00000508316.1:n.*1899G>A
ENST00000682064.1:n.1753+27G>A
ENST00000682177.1:c.1596G>A	ENSP00000507409.1:n.1596G>A
ENST00000682235.1:n.1549+27G>A
ENST00000682461.1:c.1632+27G>A	ENSP00000507308.1:n.1632+27G>A
ENST00000682653.1:n.2557G>A
ENST00000682657.1:c.*1390G>A	ENSP00000507753.1:n.*1390G>A
ENST00000682721.1:c.*1329+27G>A	ENSP00000507535.1:n.*1329+27G>A
ENST00000682843.1:c.*1167+27G>A	ENSP00000508173.1:n.*1167+27G>A
ENST00000683003.1:c.*1390G>A	ENSP00000507576.1:n.*1390G>A
ENST00000683133.1:c.1710+27G>A	ENSP00000508108.1:n.1710+27G>A
ENST00000683243.1:c.*679+27G>A	ENSP00000507042.1:n.*679+27G>A
ENST00000683463.1:c.*1015+27G>A	ENSP00000507986.1:n.*1015+27G>A
ENST00000683548.1:n.1984+27G>A
ENST00000683579.1:c.*1424+27G>A	ENSP00000506867.1:n.*1424+27G>A
ENST00000683587.1:n.2057+27G>A
ENST00000683681.1:c.*204+27G>A	ENSP00000508110.1:n.*204+27G>A
ENST00000683735.1:c.*1924+27G>A	ENSP00000508336.1:n.*1924+27G>A
ENST00000683853.1:c.*358G>A	ENSP00000506834.1:n.*358G>A
ENST00000683860.1:c.*646+27G>A	ENSP00000507179.1:n.*646+27G>A
ENST00000683884.1:c.*880G>A	ENSP00000507004.1:n.*880G>A
ENST00000684125.1:c.*186+27G>A	ENSP00000507320.1:n.*186+27G>A
ENST00000684203.1:n.3975+27G>A
ENST00000684231.1:c.*936+27G>A	ENSP00000507748.1:n.*936+27G>A
ENST00000684263.1:c.*1150+27G>A	ENSP00000508369.1:n.*1150+27G>A
ENST00000684305.1:c.1974+27G>A	ENSP00000506819.1:n.1974+27G>A
ENST00000684415.1:c.*1104G>A	ENSP00000507227.1:n.*1104G>A
ENST00000684520.1:c.*812G>A	ENSP00000506826.1:n.*812G>A
ENST00000684602.1:c.*1192+27G>A	ENSP00000507996.1:n.*1192+27G>A
ENST00000684667.1:c.1857+27G>A	ENSP00000507003.1:n.1857+27G>A
ENST00000268097.10:c.1526+27G>A MANE Select	ENSP00000268097.6:n.1526+27G>A
ENST00000268097.9:c.1526+27G>A	ENSP00000268097.5:n.1526+27G>A
ENST00000379915.4:c.608+27G>A	ENSP00000478716.1:n.608+27G>A
ENST00000564677.5:n.318+27G>A
ENST00000565873.1:n.437+27G>A
ENST00000566304.5:c.1559+27G>A	ENSP00000455114.1:n.1559+27G>A
ENST00000567027.5:c.1168G>A
ENST00000567159.5:c.*23G>A	ENSP00000456489.1:n.*23G>A
ENST00000567411.5:c.*1047+27G>A	ENSP00000455545.1:n.*1047+27G>A
ENST00000568777.5:n.6773G>A
ENST00000569116.1:n.260G>A
NM_000520.4:c.1526+27G>A	NP_000511.2:n.1526+27G>A
NM_000520.5:c.1526+27G>A	NP_000511.2:n.1526+27G>A
NM_001318825.1:c.1559+27G>A	NP_001305754.1:n.1559+27G>A
NR_134869.1:n.1797G>A
NM_000520.6:c.1526+27G>A MANE Select	NP_000511.2:n.1526+27G>A
NM_001318825.2:c.1559+27G>A	NP_001305754.1:n.1559+27G>A
NR_134869.2:n.1338G>A
NR_134869.3:n.1338G>A